Disregulation of the pathways that preserve mitochondrial integrity hallmarks many human diseases including diabetes, neurodegeneration, aging, and cancer. The mitochondrial citrate transporter gene, SLC25A1 or CIC, maps on chromosome 22q11.21, a region amplified in some tumors and deleted in developmental disorders known as velo-cardio-facial and DiGeorge syndromes. Several chromosomal translocations and amplifications involving 22q11.2 have been described in various tumors, while microdeletions of this region give rise to developmental disorders known as velo-cardio-facial (VCFS) and DiGeorge syndromes (DGS) as well as to some forms of schizophrenia.